Coverage on cataract surgery among adults aged 40 or above in a multiethnic rural district of high altitude area in Gongshan county, Yunnan province, China / 中华流行病学杂志

Objective To estimate the prevalence of cataract and its surgical coverage rate together with the burden related to bilateral cataract-blindness,among adults aged 40 or above in Gongshan county of Yunnan province and to evaluate the current cataract status and the efficacy of local cataract prevention program.Methods Cluster sampling was used.The protocol consisted of personal interview,pilot study,visual acuity checking,measuring the intraocular pressure; slit lamp microscopy and the fundus of the eye examination etc.Cataract was graded clinically using the Lens Opacity Classification System (LOCS) ]Ⅲ.Bilateral cataract-blindness burden,bilateral cataractblindness burden and cataract surgical coverage rate were calculated respectively,using two different criteria.Odds ratios (OR) were compared among different groups regarding age,gender,education,ethnic group and altitude of living area.Results Among the 1236 eligible residents,1116 (90.3％)were enrolled in the present study.The prevalence of cataract was 23.8％ among adults aged 40 or order.When the bilateral best refractive vision ＜3/60 was defined as the blindness criterion,the bilateral cataract-blindness burden showed as 1.3％,and cataract blindness surgical coverage rate was 50.0％.When the bilateral presenting vision ＜ 6/60 was defined as the blindness criterion,the bilateral cataract-blindness burden was 25.0％,and cataract blindness surgical coverage rate was 12.9％.The cataract surgical coverage rates were much lower and the bilateral cataract-blindness burden much higher in women,illiterates,living in high altitude areas and those who were aged 70 or above.Conclusion Cataract blindness was a serious public health problem in aged individuals and illiteracy in the residents of the studied areas.Poor prevention programs on cataract called for urgent action to be taken.

Copy-number variations of SHANK3 and related clinical phenotypes in children with autism / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore possible relationship between copy-number variations (CNVs) in 15q11-13, 16p11 and SHANK3 gene by using multiplex ligation-dependent probe amplification (MLPA) and the phenotypes in children with autism and to further explore the clinical application of MLPA to make an etiological diagnosis of Autism.</p><p><b>METHODS</b>The diagnosed of autism was made according to the criteria of the ICD-10 and DSM-IV, with typical cluster of symptoms comprise social disability, communication impairments and repetitious behaviors. MLPA KIT P343-C1 AUTISM-1 was used to detect and describe the incidence of CNVs in these three domains.</p><p><b>RESULTS</b>Among 109 cases collected from 102 autistic pedigrees, 2 individuals had SHANK3 microdeletion, accounting for approximately 2% (2/109) of cases, suggesting the proportion of SHANK3 microdeletion might contribute to typical autism. The phenotypic traits of patients with SHANK3 microdeletions showed homogenicity in severe core symptoms and mental retardation.</p><p><b>CONCLUSIONS</b>SHANK3 microdeletion is an important genetics component for autism, which may explain 2% typical autism cases. SHANK3 microdeletion might explain autistic core symptoms and mental retardation. MLPA is a sensitive and a high throughput technique to detect CNVs in specific DNA segments, which is beneficial for further investigation of etiology of autism.</p>